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NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 10, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002328026.2

Allele description [Variation Report for NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)]

NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)

Genes:
LOC126861443:BRD4-independent group 4 enhancer GRCh37_chr12:8800473-8801672 [Gene]
MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)
HGVS:
  • NC_000012.12:g.8648192G>A
  • NG_041814.1:g.19697C>T
  • NG_085942.1:g.416G>A
  • NM_001297709.2:c.391C>T
  • NM_001297710.2:c.355C>T
  • NM_001297711.2:c.346C>T
  • NM_001297712.2:c.229C>T
  • NM_003480.4:c.421C>TMANE SELECT
  • NP_001284638.1:p.Arg131Cys
  • NP_001284639.1:p.Arg119Cys
  • NP_001284640.1:p.Arg116Cys
  • NP_001284641.1:p.Arg77Cys
  • NP_003471.1:p.Arg141Cys
  • NC_000012.11:g.8800788G>A
  • NM_003480.2:c.421C>T
  • NR_123733.2:n.692C>T
  • NR_123734.2:n.662C>T
Protein change:
R116C
Molecular consequence:
  • NM_001297709.2:c.391C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297710.2:c.355C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297711.2:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297712.2:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003480.4:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123733.2:n.692C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_123734.2:n.662C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002629023Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002629023.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.R141C variant (also known as c.421C>T), located in coding exon 9 of the MFAP5 gene, results from a C to T substitution at nucleotide position 421. The arginine at codon 141 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024